遗传性压力易感性周围神经病，该区域部分缺失，此区域在1A型夏科-马里-图斯病中常出现重复。 - Suppr

Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.

作者信息

Chapon F, Diraison P, Lechevalier B, Chazot G, Viader F, Bonnebouche C, Vandenberghe A, Timmerman V, Van Broeckhoven C, Vandenberghe A

出版信息

J Neurol Neurosurg Psychiatry. 1996 Nov;61(5):535-6. doi: 10.1136/jnnp.61.5.535.

DOI:10.1136/jnnp.61.5.535

PMID:8937360

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1074063/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9394/1074063/52970202b300/jnnpsyc00011-0105-a.jpg

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Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.遗传性压力易感性周围神经病，该区域部分缺失，此区域在1A型夏科-马里-图斯病中常出现重复。

J Neurol Neurosurg Psychiatry. 1996 Nov;61(5):535-6. doi: 10.1136/jnnp.61.5.535.

Rapid quantitative PCR diagnostic strategy for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies.

J Chin Med Assoc. 2006 Feb;69(2):58-9. doi: 10.1016/S1726-4901(09)70114-5.

Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies.17号染色体p11.2区域CMT1A位点缺失与遗传性压力易感性周围神经病相关。

Ann Neurol. 1994 Jun;35(6):704-8. doi: 10.1002/ana.410350611.

Allele-specific all-or-none PCR product diagnostic strategy for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies.用于遗传性运动感觉神经病1A型和易患压迫性麻痹的遗传性神经病的等位基因特异性全或无PCR产物诊断策略。

J Chin Med Assoc. 2006 Feb;69(2):68-73. doi: 10.1016/S1726-4901(09)70116-9.

Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies.实时定量聚合酶链反应与重复聚合酶链反应在诊断1A型遗传性运动感觉神经病和遗传性压力易感性周围神经病中的有效性比较

Yonsei Med J. 2005 Jun 30;46(3):347-52. doi: 10.3349/ymj.2005.46.3.347.

3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands.欧洲遗传性运动感觉神经病联盟第三届研讨会：第54届ENMC国际研讨会——1型遗传性运动感觉神经病及遗传性压迫易感性神经病的基因型/表型相关性，1997年11月28日至30日，荷兰纳尔登

Neuromuscul Disord. 1998 Dec;8(8):591-603. doi: 10.1016/s0960-8966(98)00067-4.

Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies.用于1A型遗传性运动感觉神经病和易患压迫性麻痹的遗传性神经病的新型基于聚合酶链反应的诊断工具。

J Peripher Nerv Syst. 1999;4(2):117-22.

Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye.采用SYBR Green I染料实时定量PCR技术快速检测1A型遗传性运动感觉性神经病和遗传性压力易感性周围神经病患者PMP22基因的重复/缺失。

J Korean Med Sci. 2003 Oct;18(5):727-32. doi: 10.3346/jkms.2003.18.5.727.

Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.斯洛伐克患有夏科-马里-图斯病和易患压迫性麻痹的遗传性神经病患者的外周髓鞘蛋白22（PMP22）突变分析

Gen Physiol Biophys. 2011 Dec;30(4):379-88. doi: 10.4149/gpb_2011_04_379.

Use of cosH1 probe in hereditary neuropathy with liability to pressure palsies: a reliable genetic test for demonstration of identical size of 17p11.2 deletion in unrelated patients.cosH1探针在易患压迫性麻痹的遗传性神经病中的应用：一种用于证明无关患者17p11.2缺失大小相同的可靠基因检测。

Neurosci Lett. 1996 Jul 26;213(1):71-3. doi: 10.1016/0304-3940(96)12825-1.

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New evidence for secondary axonal degeneration in demyelinating neuropathies.脱髓鞘性神经病中继发性轴突变性的新证据。

Neurosci Lett. 2021 Jan 23;744:135595. doi: 10.1016/j.neulet.2020.135595. Epub 2020 Dec 24.

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.PMP22 上游拷贝数变异与 Charcot-Marie-Tooth 病。

Eur J Hum Genet. 2010 Apr;18(4):421-8. doi: 10.1038/ejhg.2009.186. Epub 2009 Nov 4.

Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.遗传性局灶性发作性神经病：遗传性压力易感性麻痹和遗传性神经性肌萎缩。

Neuromolecular Med. 2006;8(1-2):159-74. doi: 10.1385/NMM:8:1:159.

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.140万个碱基对的遗传性运动感觉神经病1A型（CMT1A）重复/遗传性压迫易感性神经病（HNPP）缺失基因组区域揭示了独特的基因组结构特征，并为新基因的近期进化提供了见解。

Genome Res. 2001 Jun;11(6):1018-33. doi: 10.1101/gr.180401.

本文引用的文献

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).遗传性压力易感性周围神经病（HNPP）患者17p11.2区域的分子遗传学分析。

Hum Genet. 1996 Jan;97(1):26-34. doi: 10.1007/BF00218828.

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies.易患压迫性麻痹的遗传性神经病存在遗传异质性的证据。

Hum Genet. 1994 Feb;93(2):151-6. doi: 10.1007/BF00210601.

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.易患压迫性麻痹的遗传性神经病中PMP22基因的移码突变。

Nat Genet. 1994 Mar;6(3):263-6. doi: 10.1038/ng0394-263.

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.两种常染色体显性神经病变是由17号染色体上一个区域的DNA相互重复/缺失引起的。

Hum Mol Genet. 1994 Feb;3(2):223-8. doi: 10.1093/hmg/3.2.223.

Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.1型遗传性运动感觉神经病中的腊肠样神经病

Acta Neuropathol. 1994;87(1):91-7. doi: 10.1007/BF00386259.

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Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.

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